Canonical Allele Identifier: CA2631119148

Gene: TSC2

Linked Data

• gnomAD v4: 16-2088378-GGCGGGTGTGTGGGCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2088383_2088399del , CM000678.2:g.2088383_2088399del	GRCh38
NC_000016.9:g.2138384_2138400del , CM000678.1:g.2138384_2138400del	GRCh37
NC_000016.8:g.2078385_2078401del	NCBI36
NG_005895.1:g.44078_44094del , LRG_487:g.44078_44094del
NG_008617.1:g.54826_54842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000568566.6:c.*3608+58_*3609-47del	ENSP00000455997.2:n.*3608+58_*3609-47del
ENST00000642206.2:c.5106+58_5107-47del	ENSP00000495146.2:n.5106+58_5107-47del
ENST00000642365.2:c.5256+58_5257-47del	ENSP00000495459.2:n.5256+58_5257-47del
ENST00000644417.2:c.*5772+58_*5773-47del	ENSP00000493912.2:n.*5772+58_*5773-47del
ENST00000646464.2:c.*8008+58_*8009-47del	ENSP00000496610.2:n.*8008+58_*8009-47del
ENST00000219476.9:c.5259+58_5260-47del MANE Select	ENSP00000219476.3:n.5259+58_5260-47del
ENST00000350773.9:c.5190+58_5191-47del	ENSP00000344383.4:n.5190+58_5191-47del
ENST00000401874.7:c.5058+58_5059-47del	ENSP00000384468.2:n.5058+58_5059-47del
ENST00000568454.6:c.5091+58_5092-47del	ENSP00000454487.1:n.5091+58_5092-47del
ENST00000569110.2:c.1482+58_1483-47del
ENST00000569930.2:n.3141+58_3142-47del
ENST00000642365.1:c.3913+58_3914-47del
ENST00000642561.1:c.5118+58_5119-47del	ENSP00000495099.1:n.5118+58_5119-47del
ENST00000642791.1:n.856+58_857-47del
ENST00000642797.1:c.5061+58_5062-47del	ENSP00000493846.1:n.5061+58_5062-47del
ENST00000642936.1:c.5127+58_5128-47del	ENSP00000494514.1:n.5127+58_5128-47del
ENST00000643088.1:c.5052+58_5053-47del	ENSP00000494747.1:n.5052+58_5053-47del
ENST00000643426.1:n.2907+58_2908-47del
ENST00000643946.1:c.5184+58_5185-47del	ENSP00000495927.1:n.5184+58_5185-47del
ENST00000644043.1:c.5130+58_5131-47del	ENSP00000496262.1:n.5130+58_5131-47del
ENST00000644329.1:c.5145+58_5146-47del	ENSP00000496611.1:n.5145+58_5146-47del
ENST00000644335.1:c.5055+58_5056-47del	ENSP00000496317.1:n.5055+58_5056-47del
ENST00000644399.1:c.5180+58_5181-47del
ENST00000645024.1:n.3343+58_3344-47del
ENST00000646388.1:c.5253+58_5254-47del	ENSP00000495921.1:n.5253+58_5254-47del
ENST00000646634.1:n.4074+58_4075-47del
ENST00000646674.1:n.2511+58_2512-47del
ENST00000647042.1:n.2482+58_2483-47del
ENST00000647180.1:n.2372+58_2373-47del
ENST00000219476.7:c.5259+58_5260-47del	ENSP00000219476.3:n.5259+58_5260-47del
ENST00000350773.8:c.5190+58_5191-47del	ENSP00000344383.4:n.5190+58_5191-47del
ENST00000382538.10:c.4914+58_4915-47del	ENSP00000371978.6:n.4914+58_4915-47del
ENST00000401874.6:c.5058+58_5059-47del	ENSP00000384468.2:n.5058+58_5059-47del
ENST00000439117.6:c.*4426+58_*4427-47del	ENSP00000406980.2:n.*4426+58_*4427-47del
ENST00000439673.6:c.4950+58_4951-47del	ENSP00000399232.2:n.4950+58_4951-47del
ENST00000497886.5:n.2982+58_2983-47del
ENST00000568454.5:c.5091+58_5092-47del	ENSP00000454487.1:n.5091+58_5092-47del
ENST00000569110.1:c.1441+58_1442-47del
ENST00000569930.1:n.2374+58_2375-47del
NM_000548.3:c.5259+58_5260-47del , LRG_487t1:c.5259+58_5260-47del	NP_000539.2:n.5259+58_5260-47del
NM_001077183.1:c.5058+58_5059-47del	NP_001070651.1:n.5058+58_5059-47del
NM_001114382.1:c.5190+58_5191-47del	NP_001107854.1:n.5190+58_5191-47del
XM_005255529.3:c.5130+58_5131-47del	XP_005255586.2:n.5130+58_5131-47del
XM_005255531.3:c.5061+58_5062-47del	XP_005255588.2:n.5061+58_5062-47del
XM_011522636.1:c.5313+58_5314-47del	XP_011520938.1:n.5313+58_5314-47del
XM_011522637.1:c.5310+58_5311-47del	XP_011520939.1:n.5310+58_5311-47del
XM_011522638.1:c.5202+58_5203-47del	XP_011520940.1:n.5202+58_5203-47del
XM_011522639.1:c.5184+58_5185-47del	XP_011520941.1:n.5184+58_5185-47del
XM_011522640.1:c.5181+58_5182-47del	XP_011520942.1:n.5181+58_5182-47del
XM_011522641.1:c.4950+58_4951-47del	XP_011520943.1:n.4950+58_4951-47del
NM_000548.4:c.5259+58_5260-47del	NP_000539.2:n.5259+58_5260-47del
NM_001077183.2:c.5058+58_5059-47del	NP_001070651.1:n.5058+58_5059-47del
NM_001114382.2:c.5190+58_5191-47del	NP_001107854.1:n.5190+58_5191-47del
NM_001318827.1:c.4950+58_4951-47del	NP_001305756.1:n.4950+58_4951-47del
NM_001318829.1:c.4914+58_4915-47del	NP_001305758.1:n.4914+58_4915-47del
NM_001318831.1:c.4527+58_4528-47del	NP_001305760.1:n.4527+58_4528-47del
NM_001318832.1:c.5091+58_5092-47del	NP_001305761.1:n.5091+58_5092-47del
NM_001363528.1:c.5061+58_5062-47del	NP_001350457.1:n.5061+58_5062-47del
NM_021055.2:c.5130+58_5131-47del	NP_066399.2:n.5130+58_5131-47del
XM_005255531.4:c.5061+58_5062-47del	XP_005255588.2:n.5061+58_5062-47del
XM_011522636.2:c.5313+58_5314-47del	XP_011520938.1:n.5313+58_5314-47del
XM_011522637.2:c.5310+58_5311-47del	XP_011520939.1:n.5310+58_5311-47del
XM_011522638.2:c.5475+58_5476-47del	XP_011520940.2:n.5475+58_5476-47del
XM_011522639.2:c.5184+58_5185-47del	XP_011520941.1:n.5184+58_5185-47del
XM_011522640.2:c.5181+58_5182-47del	XP_011520942.1:n.5181+58_5182-47del
XM_017023615.1:c.5256+58_5257-47del	XP_016879104.1:n.5256+58_5257-47del
XM_017023616.1:c.5127+58_5128-47del	XP_016879105.1:n.5127+58_5128-47del
XM_017023617.1:c.5223+58_5224-47del	XP_016879106.1:n.5223+58_5224-47del
XM_017023618.1:c.3969+58_3970-47del	XP_016879107.1:n.3969+58_3970-47del
XM_024450413.1:c.5145+58_5146-47del	XP_024306181.1:n.5145+58_5146-47del
NM_000548.5:c.5259+58_5260-47del MANE Select	NP_000539.2:n.5259+58_5260-47del
NM_001370404.1:c.5127+58_5128-47del	NP_001357333.1:n.5127+58_5128-47del
NM_001370405.1:c.5118+58_5119-47del	NP_001357334.1:n.5118+58_5119-47del
NM_001077183.3:c.5058+58_5059-47del	NP_001070651.1:n.5058+58_5059-47del
NM_001114382.3:c.5190+58_5191-47del	NP_001107854.1:n.5190+58_5191-47del
NM_001318827.2:c.4950+58_4951-47del	NP_001305756.1:n.4950+58_4951-47del
NM_001318829.2:c.4914+58_4915-47del	NP_001305758.1:n.4914+58_4915-47del
NM_001318831.2:c.4527+58_4528-47del	NP_001305760.1:n.4527+58_4528-47del
NM_001318832.2:c.5091+58_5092-47del	NP_001305761.1:n.5091+58_5092-47del
NM_001363528.2:c.5061+58_5062-47del	NP_001350457.1:n.5061+58_5062-47del
NM_021055.3:c.5130+58_5131-47del	NP_066399.2:n.5130+58_5131-47del